(Q57199307)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913798%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913798%20AND%20SRC:MED&resulttype=core&format=json

auriculocondylar syndrome

6 March 2020

main subject

1 reference

2

1 reference

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6 March 2020

Stanislas Lyonnet

7

1 reference

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6 March 2020

Jeanne Amiel

10

1 reference

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6 March 2020

author name string

Yasuhiro Kido

1

1 reference

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6 March 2020

Satoru Sakazume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913798%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Eya Ben Bdira

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913798%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Mehul Dattani

5

1 reference

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6 March 2020

Nobuyuki Murakami

8

1 reference

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6 March 2020

Toshiro Nagai

11

1 reference

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6 March 2020

Louise C Wilson

6

1 reference

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6 March 2020

Michael L Cunningham

9

1 reference

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6 March 2020

language of work or name

English

0 references

publication date

2 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913798%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

6 March 2020

published in

1 reference

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6 March 2020

volume

161A

1 reference

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6 March 2020

issue

9

1 reference

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6 March 2020

page(s)

2339-2346

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913798%20AND%20SRC:MED&resulttype=core&format=json

Hirschsprung disease, associated syndromes and genetics: a review

6 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

Regulation of facial morphogenesis by endothelin signaling: Insights from mice and fish

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

The external ear: more attention to detail may aid syndrome diagnosis and contribute answers to embryological questions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

New syndrome? Prominent, constricted ears with malformed condyle of the mandible.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

Endocrinology of male puberty

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

The correction of auricular and mandibular deformities in auriculo-condylar syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

Increased propensity for central apnea in patients with obstructive sleep apnea: effect of nasal continuous positive airway pressure

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

Autosomal dominant isolated question mark ear

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

Combined bilateral external ear deformity and hypoplastic mandible. Case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36066

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36066

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913798%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference